Early recognition and intervention is the key to recovery for Benign Congenital Hypotonia

Abstract

Benign congenital hypotonia (BCH) is a nonprogressive neuromuscular disorder
that is present at birth. Children with BCH exhibit decreased muscle tone
with varying degrees of severity. Hypotonia affects many areas of a child’s
life leading to developmental delays that include cognitive development.

Early collaborative intervention for the child with hypotonia is imperative.
Supportive treatment aids in meeting developmental milestones as educators are
involved in the essential work of encouraging cognitive development. Through
the development of Individualized Family Service Plans, educators improve the
chance for success. Early intervention programs are the key to optimal
outcomes for children with hypotonia.

The following is a very brief overview of the topic presented by
Shannon Munro Cohen at "Overcoming Great Barriers", the 6th annual International
Association of Special Education Conference in Sydney, Australia July 18-22, 1999.

Early recognition and intervention is the key to recovery for Benign Congenital Hypotonia

Shannon Munro Cohen, RNC, BSNTeresa Whitt, Ph.D.

Hypotonia, an ongoing problem for many children, is defined as decreased
muscle tone or floppiness with varying degrees of progression. It occurs in
multiple neuromuscular, metabolic and genetic disorders. Many areas of a
child’s life are affected by hypotonia leading to developmental delays that
include cognitive development. Educators working in collaboration with parents
and health care professionals improve the chances of success for children with
hypotonia. Early intervention programs and the use of Individual Family
Service plans (IFSP) are the key to optimal outcomes for children identified
with hypotonia.

The severity and progression of hypotonia varies with each child and their
diagnosis. For example, children with Down syndrome and hypotonic cerebral
palsy have low tone that remains stable or nonprogressive. Neuromuscular
disorders such as muscular dystrophy are progressive in nature; their
hypotonia worsening with time. Lastly, infants born prematurely experience
hypotonia that improves with maturity of the central nervous system.

Benign Congenital Hypotonia

Benign congenital hypotonia (BCH) is a diagnosis of exclusion given to many
children after all tests have been exhausted. In some cases, families are
never given a diagnosis for their child. BCH is a nonprogressive
neuromuscular disorder that does not worsen but tends to improve with time and
intervention. The cause of BCH is unknown and there is no cure. Researchers
have found a high familial incidence that may indicate BCH is of autosomal
dominant, genetic origin (Cohen, 1998). There is no genetic testing available
for BCH at this time.

Signs and symptoms

Children with BCH are quite hypotonic as infants with very flexible joints;
this presents many problems for the child. It is difficult for the child to
maintain head control or a sitting position. Parents handle their infants
with hypotonia gingerly as they develop head control quite late. They feel
fragile and limp like rag dolls and are unable to bear weight on their legs.
The child with BCH may slide out or fall over in a high chair. Positioning of
the infant for feeding is a particular challenge for parents as the child
lacks head and chest control and exhibits low tone in the face and mouth.
Sucking, chewing and swallowing are difficult for these infants and toddlers.
Drooling food and saliva from the mouth is common and may persist in the
school age child.

Abnormal postures assumed by these children
cause many permanent skeletal deformities such as dislocated hips, clubfeet
and contractures of the ankles, knees, elbows and wrists (Cohen, 1998). The
infant may prefer to sleep prone in a frog like position increasing his
chances of hip and chest deformities. Toddlers with hypotonia have difficulty
maintaining balance and often sit on their forelegs with their feet behind
them. This abnormal sitting posture leads to hip and knee problems as well.
Torticollis, a neck deformity, develops in some children who hold their head
to one side. Pectus excavatum, a depressed breast bone, may result from
adapted trunk control patterns as well. In the older child, gymnastics is a
particular hazard as they possess joint hypermobility without pain. Adults
with BCH may continue to experience muscle and joint problems. Recurrent
shoulder dislocation, back injury and scoliosis are common (Boehme, 1990;
Cohen, 1998).

Developmental delay and diagnosis

For the child with BCH, “every movement is a fight against gravity” (Brown,
1998). While other children are reaching out for toys and exploring their
environment, the hypotonic child is struggling to maintain his position. As a
result of this struggle, development is delayed for the child with BCH. In
the United States, approximately 750,000 infants are born each year at risk
for developmental delay (Haber, 1991). Early intervention programs are
available for children at risk. However, parents often do not seek medical
evaluation until early developmental milestones such as sitting, crawling,
walking, independent feeding and talking are missed. Parents carry the child
with BCH like a young infant and lay the child flat for dressing. As a
result, the hypotonic child becomes a passive onlooker. The child with BCH
also talks late due to facial muscle weakness. Nonverbal communication is
frequently limited which is interpreted as low cognitive ability.

Diagnosis is a lengthy, grueling process for families. When hypotonia is not
progressive and no causes are found, the decision is often left to parents at
what point they wish to stop looking for answers. The lack of a definitive
diagnosis is a source of frustration for parents. Parents must also deal with
their grief over the loss of a “perfect child.”

Cognitive development

Additional disabilities may be found in children with BCH. Due to a
limited ability to explore one’s surroundings, cognitive development may be
delayed. Children identified as having BCH may fill the void with self
stimulating activities such as banging motions (Cohen, 1998).

Family coping and intervention

Parents of a child with BCH cope with many stresses. Their lives change
immediately with the birth of the child. The child does not develop at the
same rate as his peers. Parents may not recognize or may deny that there is a
problem with their child. Denial is common among extended family members which
eliminates a source of support to parents. Parents need education and support
as they readjust expectations and accept their child’s challenges. Families
face many decisions regarding diagnosis and treatment of their child. The
family may face financial hardship and social isolation as well (Trachtenberg
& Batshaw, 1997).

Concern regarding a child’s development is the basis of early intervention
services. However, early intervention has a broader focus. Successful
programs emphasize a family centered, developmental approach providing
education and support (Bailey, 1991a). Primary care providers are the first
step in the early intervention process. Thorough assessments of at risk
children are essential (Allen, 1993). Referrals to developmental specialists
are initiated by the primary care physician. Children with hypotonia and
developmental delay are then referred to individualized programs including
early education, speech, occupational and physical therapy.

Early
intervention is an umbrella term covering many different services funded by a
variety of public and private sources. Available services are determined by
each locality. Public Law 99-457, 1986 that was reauthorized in 1991 as PL
102-119 led to expanded services for young children with disabilities. Part C
of the Individuals with Disabilities Act (IDEA), a state formula grant
program, has assisted in developing comprehensive services and mandates a
family directed approach.

Individualized Family Service Plan

In order to best meet the needs of each child and their family, an
Individualized Family Service Plan (IFSP) is developed in collaboration with
the family and the education team. The plan is ongoing and meets the changing
needs of each child. The steps in this process are outlined by Handley and
Spencer (1986): 1) problem definition and information gathering, 2)
investigating alternatives and the selection of alternatives, 3)
implementation, and 4) monitoring and evaluation of the process.

The IFSP is developed with a family centered approach with respect for the
family’s knowledge about their child and their desired outcome (McGonigel,
Kaufman & Johnson, 1991). Careful consideration of cultural differences and
family values are a part of this process (Lynch & Hanson, 1992). Through
collaboration, the team discusses priorities and alternatives and chooses the
services that will best meet the needs of each child and family. Family
involvement in IFSP planning and final decision making has become “best
practice” in early intervention (Bailey, 1991a, 1991b; Bjorch- Akesson &
Granlund, 1997; Kramer,1991; Leviton, 1991).

Early collaborative intervention for the hypotonic child is essential.
Supportive treatment helps children meet their developmental milestones. The
need for physical, occupational and speech therapy is evaluated on an
individual basis. Physical and occupational therapists work to overcome the
gross and fine motor delays caused by low tone. Speech therapists work on
speech delays and feeding difficulties.

Educators are involved in the essential work of encouraging cognitive
development. Collaboration between family members, educators and health care
professionals is essential for children with hypotonia. Educators improve
the chances of success for these children through the development of carefully
planned Individualized Family Service Plans. Early intervention programs are
the key to optimal outcomes for these children.

References

Allen, M.C. (1993, June). The child with developmental disabilities: the
high risk infant. Pediatric Clinics of North America 40(3), 479-488.